Canonical Allele Identifier: CA713157227
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs1170269585
MyVariant Identifiers: chr15:g.45686068A>G (hg19) chr15:g.45393870A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45393870A>G , CM000677.2:g.45393870A>G GRCh38
NC_000015.9:g.45686068A>G , CM000677.1:g.45686068A>G GRCh37
NC_000015.8:g.43473360A>G NCBI36
NG_011674.2:g.13448T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000458245.5:n.640+3052T>C
ENST00000527933.2:n.512+2297T>C
ENST00000560538.1:n.338+3052T>C
ENST00000561148.5:c.-319+3052T>C ENSP00000453860.1:n.-319+3052T>C
XM_011521450.1:c.31+3052T>C XP_011519752.1:n.31+3052T>C
NM_001321015.1:c.-395+3052T>C NP_001307944.1:n.-395+3052T>C
NM_001321015.2:c.-395+3052T>C NP_001307944.1:n.-395+3052T>C
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